ClinVar

NM_000245.4(MET):c.3750G>A (p.Met1250Ile)

Gene:

MET:MET proto-oncogene, receptor tyrosine kinase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7q31.2

Genomic location:

• Chr7: 116783421 (on Assembly GRCh38)
• Chr7: 116423475 (on Assembly GRCh37)

Preferred name:

NM_000245.4(MET):c.3750G>A (p.Met1250Ile)

HGVS:

• NC_000007.14:g.116783421G>A
• NG_008996.1:g.116017G>A
• NM_000245.4:c.3750G>AMANE SELECT
• NM_001127500.3:c.3804G>A
• NM_001324402.2:c.2460G>A
• NP_000236.2:p.Met1250Ile
• NP_001120972.1:p.Met1268Ile
• NP_001311331.1:p.Met820Ile
• LRG_662t1:c.3804G>A
• LRG_662:g.116017G>A
• LRG_662p1:p.Met1268Ile
• NC_000007.13:g.116423475G>A

This HGVS expression did not pass validation

Protein change:

M1250I; MET1268ILE

Links:

OMIM: 164860.0009; dbSNP: rs121913676

NCBI 1000 Genomes Browser:

rs121913676

Molecular consequence:

• NM_000245.4:c.3750G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001127500.3:c.3804G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001324402.2:c.2460G>A - missense variant - [Sequence Ontology: SO:0001583]